rare disease diagnosis

Whole Exome Sequencing (WES) is a powerful genetic testing method that sequences all protein-coding regions (exons) of the genome, covering approximately 1-2% of the DNA where most disease-causing mutations occur. It offers a cost-effective alternative to whole genome sequencing while providing high-depth coverage for accurate variant detection. WES enables the identification of genetic mutations linked to inherited disorders, cancer, and rare diseases, making it a valuable tool for clinical diagnostics, personalized medicine, and research.